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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ABCD3 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5825
Official gene symbolABCD3
Full nameATP-binding cassette, sub-family D (ALD), member 3
Aliases,ABC43,PMP70,PXMP1,ZWS2,
Gene summaryThe protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq]
LocationChromosome: 1   Locus: 1p22-p21
Gene position94883933 - 94984219  Map Viewer
Gene orientationplus
Gene size100287 bp
Gene sequence
OMIM ID170995